Canonical Allele Identifier: CA353100104

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226620
• MyVariant Identifiers: chr3:g.52437516C>G (hg19) ; chr3:g.52403500C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403500C>G , CM000665.2:g.52403500C>G	GRCh38
NC_000003.11:g.52437516C>G , CM000665.1:g.52437516C>G	GRCh37
NC_000003.10:g.52412556C>G	NCBI36
NG_031859.1:g.11494G>C , LRG_529:g.11494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1645G>C MANE Select	ENSP00000417132.1:p.Ala549Pro
ENST00000296288.9:c.1591G>C	ENSP00000296288.5:p.Ala531Pro
ENST00000460680.5:c.1645G>C	ENSP00000417132.1:p.Ala549Pro
ENST00000466093.1:n.52G>C
ENST00000469613.5:c.119+301G>C
ENST00000478368.1:c.148G>C	ENSP00000420647.1:p.Ala50Pro
NM_004656.3:c.1645G>C	NP_004647.1:p.Ala549Pro
XM_011534149.1:c.1645G>C	XP_011532451.1:p.Ala549Pro
XM_011534150.1:c.1645G>C	XP_011532452.1:p.Ala549Pro
XM_011534151.1:c.1591G>C	XP_011532453.1:p.Ala531Pro
XM_011534152.1:c.1645G>C	XP_011532454.1:p.Ala549Pro
XM_011534149.3:c.1645G>C	XP_011532451.1:p.Ala549Pro
XM_011534150.3:c.1645G>C	XP_011532452.1:p.Ala549Pro
XM_011534151.3:c.1591G>C	XP_011532453.1:p.Ala531Pro
XM_011534152.2:c.1645G>C	XP_011532454.1:p.Ala549Pro
XM_017007303.2:c.1591G>C	XP_016862792.1:p.Ala531Pro
NM_004656.4:c.1645G>C MANE Select	NP_004647.1:p.Ala549Pro